About Site Map Contact Us
|A service of the U.S. National Library of Medicine®|
On this page:
Reviewed February 2011
What is the official name of the CACNA1A gene?
The official name of this gene is “calcium channel, voltage-dependent, P/Q type, alpha 1A subunit.”
CACNA1A is the gene's official symbol. The CACNA1A gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CACNA1A gene?
The CACNA1A gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (calcium ions) across cell membranes, play a key role in a cell's ability to generate and transmit electrical signals. Calcium ions are involved in many different cellular functions, including cell-to-cell communication, the tensing of muscle fibers (muscle contraction), and the regulation of certain genes.
The CACNA1A gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV2.1. This subunit forms the hole (pore) through which calcium ions can flow. CaV2.1 channels play an essential role in communication between nerve cells (neurons) in the brain. These channels help control the release of neurotransmitters, which are chemicals that relay signals from one neuron to another. Researchers believe that CaV2.1 channels are also involved in the survival of neurons and the ability of these cells to change and adapt over time (plasticity).
Near one end of the CACNA1A gene, a segment of three DNA building blocks (nucleotides) is repeated multiple times. This sequence, which is written as CAG, is called a triplet or trinucleotide repeat. In most people, the number of CAG repeats in this gene ranges from 4 to 18.
Does the CACNA1A gene share characteristics with other genes?
The CACNA1A gene belongs to a family of genes called CACN (calcium channels).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the CACNA1A gene related to health conditions?
Where is the CACNA1A gene located?
Cytogenetic Location: 19p13
Molecular Location on chromosome 19: base pairs 13,317,255 to 13,617,273
The CACNA1A gene is located on the short (p) arm of chromosome 19 at position 13.
More precisely, the CACNA1A gene is located from base pair 13,317,255 to base pair 13,617,273 on chromosome 19.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CACNA1A?
You and your healthcare professional may find the following resources about CACNA1A helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CACNA1A gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CACNA1A?
acids ; amino acid ; ataxia ; calcium ; cell ; cell membrane ; cerebellum ; channel ; contraction ; cytoplasm ; depression ; DNA ; dysarthria ; familial ; family history ; gene ; hemiplegic ; involuntary ; ions ; ion transport ; migraine ; mutation ; neuron ; neurotransmitters ; nystagmus ; plasticity ; protein ; Purkinje cells ; sporadic ; subunit ; threonine ; trinucleotide repeat ; voltage
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.